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Mapping of the Locus for Cholestasis-Lymphedema Syndrome (Aagenaes Syndrome) to a 6.6-cM Interval on Chromosome 15q

✍ Scribed by Laura N. Bull; Erin Roche; Eyun J. Song; Jan Pedersen; A.S. Knisely; ; C.B. van der Hagen; Kristin Eiklid; Øystein Aagenaes; Nelson B. Freimer

Book ID
117853428
Publisher
American Society of Human Genetics
Year
2000
Tongue
English
Weight
689 KB
Volume
67
Category
Article
ISSN
0002-9297

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✍ Narkis, Ginat ;Landau, Daniella ;Manor, Esther ;Elbedour, Khalil ;Tzemach, Anna 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 138 KB 👁 1 views

## Abstract We have recently described a novel autosomal recessive disorder, lethal congenital contractural syndrome type 2 (LCCS2) (OMIM 607598), in a large Israeli Bedouin kindred. The phenotype, which is lethal in the neonatal period, is distinguished by the presence of a markedly distended urin